Literature DB >> 3233775

Terminal deletion of the short arm of chromosome 5.

C Baccichetti1, E Lenzini, L Artifoni, D Caufin, P Marangoni.   

Abstract

Three cases of deletion of the short arm of chromosome 5 are described: one family cluster, in which the mother and three sons are affected, and two sporadics without the typical "cri du chat" phenotype (the family and Case 2 were previously reported in 1982). Mental retardation varied between affected members of the same family. Band p15.2 appears critical for the development of the complete phenotype. A peculiar deafness observed in the familial and one of the sporadic cases suggests a cochlear malformation.

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Year:  1988        PMID： 3233775     DOI： 10.1111/j.1399-0004.1988.tb02868.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  10 in total

Review 1.  Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

Authors:  M J Pettenati; N Rao; C Johnson; R Hayworth; K Crandall; O Huff; I T Thomas
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

Authors:  Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Journal:  Hum Genet       Date:  2008-09-07       Impact factor: 4.132

3.  Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

Authors:  D M Church; U Bengtsson; K V Nielsen; J J Wasmuth; E Niebuhr
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

4.  Interstitial deletion, del(4)(q33q35.1), in a mother and two children.

Authors:  M A Curtis; R A Smith; J Sibert; H E Hughes
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

Review 5.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

6.  Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

Authors:  M Gersh; S A Goodart; L M Pasztor; D J Harris; L Weiss; J Overhauser
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

7.  Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Authors:  Dilek U Alkaya; Birsen Karaman; Beyhan Tüysüz
Journal:  Mol Syndromol       Date:  2020-04-02

8.  Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.

Authors:  P C Mainardi; C Perfumo; A Calì; G Coucourde; G Pastore; S Cavani; F Zara; J Overhauser; M Pierluigi; F D Bricarelli
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

Review 9.  Cri du Chat syndrome.

Authors:  Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2006-09-05       Impact factor: 4.123

10.  Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.

Authors:  Yerai Vado; Javier Errea-Dorronsoro; Isabel Llano-Rivas; Nerea Gorria; Arrate Pereda; Blanca Gener; Laura Garcia-Naveda; Guiomar Perez de Nanclares
Journal:  BMC Med Genomics       Date:  2018-12-27       Impact factor: 3.063
  10 in total

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